GAA c.673del ;(p.Q225Sfs*8)

Variant ID: 17-78079674-GC-G

NM_000152.3(GAA):c.673del;(p.Q225Sfs*8)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GAA: 673delC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations.

Molecular Vision
Zou, Gang G; Zhang, Tao T; Cheng, Xuesen X; Igelman, Austin D AD; Wang, Jun J; Qian, Xinye X; Fu, Shangyi S; Wang, Keqing K; Koenekoop, Robert K RK; Fishman, Gerald A GA; Yang, Paul P; Li, Yumei Y; Pennesi, Mark E ME; Chen, Rui R
Publication Date: 2021

Variant appearance in text: GAA: 673delC
PubMed Link: 33907365
Variant Present in the following documents:
  • Main text
View BVdb publication page